A Practical, Systematic Approach to Genetic Diagnosis in a Fetus or Neonate with Congenital Anomalies-Reference-Cited by-同舟云学术

A Practical, Systematic Approach to Genetic Diagnosis in a Fetus or Neonate with Congenital Anomalies

Published:2024-09-01 Issue:9 Volume:25 Page:e537-e550
ISSN:1526-9906
Container-title:NeoReviews
language:en
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Author:

Mangla Mishu¹,Nerakh Gayatri²,Anne Rajendra Prasad³,Kaliappan Ariyanachi⁴,Kaur Harpreet⁵,Singla Deepak⁶

Affiliation:

1. *Department of Obstetrics and Gynaecology, All India Institute of Medical Sciences, Bibinagar, Hyderabad, India

2. †Fernandez Foundation, Hyderabad, India

3. ‡Department of Neonatology, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India

4. §Department of Anatomy, All India Institute of Medical Sciences, Bibinagar, Hyderabad, India

5. ¶Department of Obstetrics and Gynaecology, All India Institute of Medical Sciences, Bilaspur, Himachal Pradesh, India

6. ‖Department of Anaesthesiology and Critical Care, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India

Abstract

Congenital anomalies contribute significantly to perinatal, neonatal, and infant morbidity and mortality. The causes of these anomalies vary, ranging from teratogen exposure to genetic disorders. A high suspicion for a genetic condition is especially important because a genetic diagnosis carries a risk of recurrence in future pregnancies. Various methods are available for genetic testing, and each plays a role in establishing a genetic diagnosis. This review summarizes a practical, systematic approach to a fetus or neonate with congenital anomalies.

Publisher

American Academy of Pediatrics (AAP)

Link

https://publications.aap.org/neoreviews/article-pdf/25/9/e537/1700092/neoreviews.022024cmerev00044.pdf

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